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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825457343
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158375
ClinVar RCV Id:
RCV000145755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Tyr1444Asp
CA271415
NM_001079846.1:c.4330T>G